Congenital adrenal hyperplasia (CAH) involves a functional defect in any of the five enzymatic steps required for cortisol synthesis, most commonly 21- (involved in 90-95% of cases) and 11-hydroxylase level. This primary genetic defect transmitted as autosomal recessive impairs the ability of the adrenal cortex to synthesize cortisol causing increase feedback secretion of ACTH and adreno-cortical hyperplasia of the gland. Increase output of steroids proximal to the block (androgenic precursors) causes virilization in affected males and females. Its more severe form is associated with aldosterone deficiency and life-threatening salt wasting. Female pseudohermaphrodite due to virilizing CAH is the most frequent form of intersexuality found. The phenotypic picture varies from mild clitoral enlargement alone to complete masculinization of the urethral meatus at the tip of the penis. Prenatal diagnosis (southern blotting of DNA) is based on finding the disease gene on the short arm of chromosome 6. Likewise management in the mother (dexamethasone) is started empirically until the affected status is known by chorionic villus sampling. After birth management consists of cut-back or flap vaginoplasty with clitoral recession at 3-6 months of age. Children with high vaginal entry proximal to the urethra external sphincter can undergo early one-stage reconstruction at 8-12 months of age. Long term surgical results of female children show adequate sexual identification, reproduction, intellectual functioning and acceptable genitalia.
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